Global Variome shared LOVD

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Phenotype #0000351326 Individual ID 00465926 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite BRYLIB1 Phenotype details see paper; ..., prenatal unremarkable, uneventful; birth unremarkable; short stature, failure to thrive; global developmental delay (gross moto dealy, speech delay); microcephaly, hypotonia, seizures, drooling, ataxia; no dysmorphism; strabismus; joint hypermobility, pes planus; constipation, gastroesophageal reflux disease; no cardiac anomalies; sleep dysregulation, reduced sweating, erythema multiforme Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-19 10:58:58 +02:00 (CEST) Date last edited N/A

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